A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing


Karacan I., Kucukkaya R. D. , Karakus F. N. , Solakoglu S., Tolun A., Hancer V. S. , ...More

TURKISH JOURNAL OF HEMATOLOGY, vol.36, no.1, pp.29-36, 2019 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 36 Issue: 1
  • Publication Date: 2019
  • Doi Number: 10.4274/tjh.galenos.2018.2018.0325
  • Title of Journal : TURKISH JOURNAL OF HEMATOLOGY
  • Page Numbers: pp.29-36

Abstract

Objective: Autosomal recessive cutis laxa type IIA (ARCL2A) is a rare congenital disorder characterized by loose arid elastic skin, growth and developmental delay, and skeletal anomalies. It is caused by biallelic mutations in ATP6V0A2. Those mutations lead to increased pH in secretory vesicles and thereby to impaired glycosyltransferase activity and organelle trafficking. We aimed to identify the genetic and molecular cause of the unexpected hematological findings in a Turkish family.